Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0149871 (deep vein thrombosis)
 12,364 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Deep venous thrombosis (DVT) is associated with a genetic risk factor in about half of all cases. Antithrombin, protein C or protein S deficiencies account for 5 to 10 per cent of hereditary thrombophilia whereas the Arg 506 Gln factor V mutation is found in 20 to 30 per cent of DVTs and the G20210A factor II gene mutation in 5 to 10 per cent of them. The risk for DVT is increased three- to fourfold in women using oral contraceptives (OC); it is also increased during menopause hormonotherapy. Oestrogens modify the haemostatic balance, inferring a role in the thrombotic risk. The only thrombophilic factor which in association with OC was demonstrated to multiply the risk is the factor V Arg 506 Gln mutation, with a relative risk around 30. This observation reinforces the hypothesis that venous thrombosis is a multifactorial disease.
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PMID:[Interaction of estrogens and genetic risk factors for thrombosis]. 1050 Apr 51

Inherited thrombophilic states are associated with an increased risk for deep vein thrombosis (DVT), but whether they are also risk factors for superficial vein thrombosis (SVT) is uncertain. We assessed the risk conferred by inherited thrombophilic states in patients with a first episode of SVT in whom the coexistence of DVT had been ruled out by ultrasonography. Sixty-three patients with SVT, after exclusion of patients with varicose veins, malignant or autoimmune disease, and 537 healthy individuals were investigated. The G1691A mutation in the factor V gene, the G20210A mutation in the prothrombin gene, and deficiencies of the naturally occurring inhibitors of coagulation (antithrombin, protein C, protein S) were searched. The prevalence of each thrombophilic state was higher in patients than in controls. The odds ratios for SVT were 6.1 (95% confidence interval [CI], 2.6 to 14.2) in patients with the G1691A factor V mutation, 4.3 (95% CI, 1.5 to 12.6) in those with the G20210A prothrombin mutation, and 12.9 (95% CI, 3.6 to 46.2) in those with deficiencies of the naturally occurring inhibitors of coagulation taken together. Risks did not substantially change when the analysis was restricted to 43 patients who had SVT as their only thrombotic manifestation, being 4.3 (95% CI, 1.5 to 12.3) in patients with factor V mutation, and 3.6 (95% CI, 1.0 to 13.1) in those with the prothrombin mutation. Among the circumstantial risk factors investigated (surgery, trauma, prolonged immobilization, oral contraceptives and pregnancy or puerperium), pregnancy or puerperium was the most frequently associated with SVT, being present in 38% of women. Our findings indicate that inherited thrombophilic states are associated with an increased risk for SVT. Hence, a laboratory search of these alterations is recommended in patients with SVT, because it allows the identification of patients at high risk of DVT in whom antithrombotic prophylaxis is particularly warranted.
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PMID:Genetic risk factors for superficial vein thrombosis. 1054

With the aim of establishing whether the HR2 haplotype in factor V affects the risk of venous thromboembolism, a retrospective multicenter cohort study was performed in 810 family members identified through 174 probands who suffered from at least 1 episode of deep vein thrombosis and/or pulmonary embolism and had an inherited defect associated with thrombophilia (antithrombin, protein C, or protein S deficiency; factor V R506Q or prothrombin G20210A). Fifty-eight percent (468/810) of the family members had an inherited defect and 10% (47/468) were symptomatic. The HR2 haplotype was found in association with factor V R506Q more frequently in family members with venous thromboembolism (18%) than in those without (8%). Double heterozygosity for factor V R506Q and HR2 conferred a 3- to 4-fold increase in the relative risk of venous thromboembolism compared with factor V R506Q alone. The median age at first event was lower when the 2 defects were associated (46 v 52 years). No increase in risk of venous thromboembolism could be demonstrated when the HR2 haplotype was associated with inherited thrombophilic defects other than factor V R506Q. Because both factor V R506Q and the HR2 haplotype are very frequent, the effect of their coinheritance on the risk of venous thromboembolism might represent a clinically relevant issue, and screening for HR2 in carriers of factor V R506Q should be considered.
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PMID:Coinheritance of the HR2 haplotype in the factor V gene confers an increased risk of venous thromboembolism to carriers of factor V R506Q (factor V Leiden). 1055 90

A 23-year-old female presented with dural sinus thrombosis caused by protein S deficiency. She suffered superior sagittal sinus thrombosis 6 days after delivering her first child. Past history showed deep vein thrombosis at the age of 20. While conservative management was initiated because of the potential risk of increasing intracranial hemorrhage, several hours later she deteriorated rapidly because of severe brain swelling with massive hemorrhage. The patient died despite surgical decompression. Autopsy disclosed organized thrombus in the superior sagittal and transverse sinuses. Although the total concentration of protein S was normal, the free protein S concentration and protein S activity were decreased. Protein S deficiency is a rare cause of dural sinus thrombosis, but is associated with a high mortality rate, so accurate diagnosis and urgent intervention are required.
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PMID:Dural sinus thrombosis in a patient with protein S deficiency--case report. 1065 54

A hypercoagulable state and the risk of thromboembolism in both arterial and venous circulation is a relatively frequent and serious feature of nephrotic syndrome (NS) in children and adults. The aim of this study was to evaluate the coagulation states of children with NS before and after corticosteroid (CS) therapy and to compare the results with a healthy control group. The first group consisted of 49 nephrotic children (30 boys and 19 girls) with a mean age of 6. 5+/-4.9 years (range 1-16 years). The control group included 17 healthy children (9 boys and 8 girls). At the time of admission, all patients were evaluated for the presence of clinical thromboembolism, hematological and biochemical indicators of a hypercoagulative state, and renal disease. This was repeated after CS treatment. Deep vein thrombosis was observed in 2 nephrotic patients who had very low plasma antithrombin III (AT III) levels and fibrinogen levels above 750 mg/dl. Thus, the prevalence of thromboembolism was 4% in our pediatric nephrotic population. The mean AT III level of the study group was 68.2+/-23.4% at the onset of the disease, which was significantly lower than the level of the control group (84.0+/-7. 6%). Plasma AT III levels increased to 74.4+/-15.3% after CS treatment, which correlated with the serum albumin levels. However, there was no correlation with urinary protein excretion. Protein C levels were higher than controls during all stages of the disease in both steroid-responsive and -unresponsive patients. The mean protein S level was similar in both groups. Plasma fibrinogen and cholesterol levels were significantly higher in the study group but decreased to within normal limits with remission. Our study suggests that thromboembolic complications are not infrequent in children with NS, and may be related to low plasma AT III and albumin and high fibrinogen and cholesterol levels.
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PMID:Hemostatic problems and thromboembolic complications in nephrotic children. 1119 16

Although lower extremity deep venous thrombosis (LEDVT) has been associated with a hypercoagulable state, there are scant data available for patients presenting with upper extremity deep venous thrombosis (UEDVT). Therefore, we conducted a prospective study to determine whether such an association exists for UEDVT. Fifty-two patients who presented with UEDVT at our institution from August 1996 to June 1997 underwent a hematological profile consisting of activated protein C (APC) resistance, antithrombin III (ATIII) level and activity, factor V mutation (arginine 506 to glycine), protein C level and activity, protein S level and activity, factors II and X activity, lupus anticoagulant, and cardiolipin antibody. This represented 68% (52/76) of the total number of patients in whom the diagnosis of UEDVT was made by duplex ultrasonography during this time period. The ages ranged from 9 to 97 (mean 63 +/- 23 years). There were 22 males and 30 females. Twenty-five patients (48%) had a central venous line in place, 4 patients (8%) had a pacemaker, 14 patients (27%) had a history of neoplasm, and 7 patients (13%) had concomitant LEDVT. The results of our study showed that a hypercoagulable state may be an underappreciated contributing factor in the development of UEDVT. Contrary to prior belief that three sets of tests are needed to confirm the presence of a hypercoagulable state, these data also suggest that only two tests may be needed.
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PMID:Upper extremity deep venous thrombosis: an underrecognized manifestation of a hypercoagulable state. 1099 May 49

Patients with a first venous thromboembolic event and a deficiency of the coagulation inhibitors antithrombin, protein C or protein S have an increased risk of recurrent venous thromboembolism compared to patients without such a deficiency. A decision analysis was performed to assess the effect of continuing treatment with vitamin K antagonists on mortality by a reduction in fatal recurrent pulmonary embolism and an induction of fatal haemorrhages associated with their use. The treatment decision involves continuation or discontinuation of vitamin K antagonists in patients with a first spontaneous or secondary venous thromboembolism and an antithrombin, protein C or S deficiency. Although the efficiency of oral anticoagulation is high in all age groups early after the first thromboembolic event, it decreases over time. Our analysis indicates that the optimal treatment duration will vary, depending on the type of the initial event (spontaneous or secondary; deep venous thrombosis or pulmonary embolism), age, and time passed since the initial thromboembolic episode. Moreover, life-long duration of the prophylaxis seems not warranted in all patients.
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PMID:Duration of oral anticoagulant treatment in patients with venous thromboembolism and a deficiency of antithrombin, protein C or protein S--a decision analysis. 1112 47

Variability of thrombotic disease among individuals homozygous for factor V Leiden has been described. It has been shown that some thrombotic patients carry an additional genetic risk factor such as protein C, protein S, antithrombin deficiency or the G20210A mutation on the prothrombin gene. The occurrence of a deep vein thrombosis during enoxaparin prophylactic treatment in a pregnant woman homozygous for factor V Leiden, without other known prothrombotic genetic factors, led us to investigate her thrombomodulin gene. We found that the patient was heterozygous for the previously described G127-->A mutation, which results in an Ala25-->Thr substitution. Furthermore, for this patient, the allelic combination at the 1418 polymorphic site was C/T, which predicts an Ala455-->Val replacement. Although larger studies are required, this case report suggests that thrombomodulin gene mutations could be an additional genetic risk factor for thrombosis in carriers of the factor V Leiden mutation.
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PMID:Deep vein thrombosis during enoxaparin prophylactic treatment in a young pregnant woman homozygous for factor V Leiden and heterozygous for the G127-->a mutation in the thrombomodulin gene. 1113 55

The array of clinicopathologic factors associated with acquired immune deficiency syndrome (AIDS) patients continues to increase and surprise many physicians. The recent literature contains reports of thrombotic episodes occurring in patients with human immunodeficiency virus (HIV) infection. Various abnormalities predisposing to a hypercoagulable state have also been reported in AIDS patients including the presence of antiphospholipid antibodies and the lupus anticoagulant; deficiencies of protein C, protein S, heparin cofactor II, and antithrombin and increased levels of von Willebrand factor, and d-dimers. These abnormalities correlate with the severity of HIV-associated immunosuppression as measured by the CD4 cell counts and with the presence of concurrent infectious or neoplastic diseases. The authors reviewed the medical literature and describe various abnormalities predisposing to a hypercoagulable state in AIDS patients along with the management of such complications. This issue is important because deep venous thrombosis (DVT), pulmonary embolus (PE), or thrombosis at other sites can develop in patients with AIDS who are ambulatory and have no known risk factors for pathologic thrombus formation, providing another challenge in an already difficult clinical situation. This also provides a strong rationale for careful prospective studies focusing on the prevalence and risk factors involved in the development of thromboembolic complications in patients with AIDS.
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PMID:HIV and thrombosis: a review. 1117 84

Evaluation of inherited thrombophilia in patients with venous thromboembolism includes testing for functional activity of antithrombin, protein C and protein S, and resistance to activated protein C (factor V Leiden), which can be assessed with plasma and DNA-based assays. The antiphospholipid syndrome is an acquired disorder related to the development of antibodies against phospholipid-protein complexes. Testing for the antiphospholipid syndrome includes measurement of antibodies to phospholipid-protein complexes by immunoassay or by detecting interference of anti-phospholipid antibodies in sensitive phospholipid-based assays. Other genetic risk factors have been listed, including a common polymorphism in prothrombin gene (3'-untranslated region) related to an increase of prothrombin level (> 115%) and a common polymorphism in the methylene tetrahydrofolate reductase (enzyme involved in homocysteine metabolism) gene related to a mild increase of homocysteine blood level. More recently high plasmatic levels of factor VIII (> 150%) or factor XI (> 120%), not related so far to a molecular defect, have been identified as risk factors for deep vein thrombosis. As a candidate gene, factor XIII gene polymorphisms are under investigation. Beside the acquired or genetic risk factors involved in thrombophilia, the gene-environment interactions are of importance in the onset of thrombosis.
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PMID:[Laboratory testing for venous thromboembolism]. 1120 40


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